ClinVar for Gene (Select 135935) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357497	NM_001080413.3(NOBOX):c.1827G>A (p.Pro609=)	NOBOX	Single nucleotide variant (synonymous variant)	NOBOX-related disorder	GLikely benign
Select item 3354273	NM_001080413.3(NOBOX):c.756G>A (p.Ala252=)	NOBOX	Single nucleotide variant (synonymous variant)	NOBOX-related disorder	GLikely benign
Select item 3354267	NM_001080413.3(NOBOX):c.480G>A (p.Pro160=)	NOBOX	Single nucleotide variant (synonymous variant)	NOBOX-related disorder	GLikely benign
Select item 3352643	NM_001080413.3(NOBOX):c.1650G>A (p.Thr550=)	NOBOX	Single nucleotide variant (synonymous variant)	NOBOX-related disorder	GLikely benign
Select item 3352058	NM_001080413.3(NOBOX):c.755C>T (p.Ala252Val)	NOBOX (A252V)	Single nucleotide variant (missense variant)	NOBOX-related disorder	GUncertain significance
Select item 3300212	NM_001080413.3(NOBOX):c.190G>A (p.Ala64Thr)	NOBOX (A64T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300211	NM_001080413.3(NOBOX):c.499C>T (p.Pro167Ser)	NOBOX (P167S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300210	NM_001080413.3(NOBOX):c.1315A>G (p.Thr439Ala)	NOBOX (T439A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300209	NM_001080413.3(NOBOX):c.326G>C (p.Gly109Ala)	NOBOX (G109A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251988	NM_001080413.3(NOBOX):c.48G>C (p.Trp16Cys)	NOBOX (W16C)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 3200937	NM_001080413.3(NOBOX):c.988G>A (p.Gly330Ser)	NOBOX (G330S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200936	NM_001080413.3(NOBOX):c.659C>T (p.Pro220Leu)	NOBOX (P220L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200934	NM_001080413.3(NOBOX):c.1961C>T (p.Pro654Leu)	NOBOX (P654L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200933	NM_001080413.3(NOBOX):c.1948G>A (p.Glu650Lys)	NOBOX (E650K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200932	NM_001080413.3(NOBOX):c.1925C>T (p.Ser642Leu)	NOBOX (S642L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200931	NM_001080413.3(NOBOX):c.1907C>A (p.Ala636Asp)	NOBOX (A636D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200929	NM_001080413.3(NOBOX):c.1759C>T (p.Pro587Ser)	NOBOX (P587S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200928	NM_001080413.3(NOBOX):c.1698C>A (p.Ser566Arg)	NOBOX (S566R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200927	NM_001080413.3(NOBOX):c.161C>A (p.Ser54Tyr)	NOBOX (S54Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200926	NM_001080413.3(NOBOX):c.160T>A (p.Ser54Thr)	NOBOX (S54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200925	NM_001080413.3(NOBOX):c.1487C>G (p.Pro496Arg)	NOBOX (P496R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200924	NM_001080413.3(NOBOX):c.1336C>T (p.Pro446Ser)	NOBOX (P446S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200923	NM_001080413.3(NOBOX):c.1318C>T (p.Pro440Ser)	NOBOX (P440S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200922	NM_001080413.3(NOBOX):c.1307G>A (p.Arg436Lys)	NOBOX (R436K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200921	NM_001080413.3(NOBOX):c.1271C>G (p.Thr424Ser)	NOBOX (T424S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200920	NM_001080413.3(NOBOX):c.1222C>T (p.Pro408Ser)	NOBOX (P408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3044451	NM_001080413.3(NOBOX):c.126G>C (p.Leu42=)	NOBOX	Single nucleotide variant (synonymous variant)	NOBOX-related disorder	GBenign
Select item 3039161	NM_001080413.3(NOBOX):c.651A>T (p.Thr217=)	NOBOX	Single nucleotide variant (synonymous variant)	NOBOX-related disorder	GLikely benign
Select item 3026094	NM_001080413.3(NOBOX):c.791C>T (p.Pro264Leu)	NOBOX (P264L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685273	GRCh37/hg19 7q35-36.1(chr7:144075624-149323060)x1	C7orf33, CNTNAP2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2664232	NM_001080413.3(NOBOX):c.1337C>T (p.Pro446Leu)	NOBOX (P446L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 2658133	NM_001080413.3(NOBOX):c.414A>C (p.Ser138=)	NOBOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658132	NM_001080413.3(NOBOX):c.1243C>G (p.Pro415Ala)	NOBOX (P415A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658131	NM_001080413.3(NOBOX):c.1901C>T (p.Pro634Leu)	NOBOX (P634L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636788	NM_001080413.3(NOBOX):c.488G>A (p.Arg163His)	NOBOX (R163H)	Single nucleotide variant (missense variant)	NOBOX-related disorder	GUncertain significance
Select item 2630292	NM_001080413.3(NOBOX):c.1489del (p.Cys497fs)	NOBOX (C497fs)	Deletion (frameshift variant)	NOBOX-related disorder	GLikely pathogenic
Select item 2614329	NM_001080413.3(NOBOX):c.1250T>A (p.Met417Lys)	NOBOX (M417K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601903	NM_001080413.3(NOBOX):c.116T>C (p.Val39Ala)	NOBOX (V39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593687	NM_001080413.3(NOBOX):c.742C>T (p.Leu248Phe)	NOBOX (L248F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	ABCB8, ABCF2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2551604	NM_001080413.3(NOBOX):c.628A>G (p.Asn210Asp)	NOBOX (N210D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486096	NM_001080413.3(NOBOX):c.1847G>A (p.Gly616Glu)	NOBOX (G616E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484389	NM_001080413.3(NOBOX):c.539C>T (p.Thr180Ile)	NOBOX (T180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474326	NM_001080413.3(NOBOX):c.1431C>A (p.Ser477Arg)	NOBOX (S477R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426756	NC_000007.13:g.(?_144094333)_(144532695_?)del	NOBOX, TPK1	Deletion	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2426755	NC_000007.13:g.(?_144094333)_(144463064_?)dup	NOBOX, TPK1	Duplication	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2387405	NM_001080413.3(NOBOX):c.794C>T (p.Pro265Leu)	NOBOX (P265L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377493	NM_001080413.3(NOBOX):c.977C>T (p.Ala326Val)	NOBOX (A326V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368960	NM_001080413.3(NOBOX):c.923C>T (p.Thr308Met)	NOBOX (T308M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358260	NM_001080413.3(NOBOX):c.1015G>A (p.Glu339Lys)	NOBOX (E339K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353068	NM_001080413.3(NOBOX):c.1034C>T (p.Ser345Leu)	NOBOX (S345L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347461	NM_001080413.3(NOBOX):c.1448C>T (p.Pro483Leu)	NOBOX (P483L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337344	NM_001080413.3(NOBOX):c.1715G>A (p.Gly572Asp)	NOBOX (G572D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331115	NM_001080413.3(NOBOX):c.221A>G (p.Asp74Gly)	NOBOX (D74G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323730	NM_001080413.3(NOBOX):c.487C>G (p.Arg163Gly)	NOBOX (R163G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2319609	NM_001080413.3(NOBOX):c.1691G>A (p.Gly564Asp)	NOBOX (G564D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283185	NM_001080413.3(NOBOX):c.868A>G (p.Ile290Val)	NOBOX (I290V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281404	NM_001080413.3(NOBOX):c.416G>A (p.Gly139Glu)	NOBOX (G139E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265718	NM_001080413.3(NOBOX):c.1592C>T (p.Pro531Leu)	NOBOX (P531L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255090	NM_001080413.3(NOBOX):c.358G>A (p.Ala120Thr)	NOBOX (A120T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245565	NM_001080413.3(NOBOX):c.1803G>T (p.Leu601Phe)	NOBOX (L601F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237283	NM_001080413.3(NOBOX):c.1243C>T (p.Pro415Ser)	NOBOX (P415S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207428	NM_001080413.3(NOBOX):c.1649C>T (p.Thr550Met)	NOBOX (T550M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1709933	NM_001080413.3(NOBOX):c.331G>A (p.Gly111Arg)	NOBOX (G111R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1684958	NM_001080413.3(NOBOX):c.1112A>C (p.Lys371Thr)	NOBOX (K371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1449333	NC_000007.13:g.(?_144094333)_(144150776_?)dup	NOBOX, TPK1	Duplication	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 1308604	NM_001080413.3(NOBOX):c.1066C>T (p.Arg356Trp)	NOBOX (R356W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307604	NM_001080413.3(NOBOX):c.265G>T (p.Val89Leu)	NOBOX (V89L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305107	NM_001080413.3(NOBOX):c.895A>G (p.Ser299Gly)	NOBOX (S299G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292737	NM_001080413.3(NOBOX):c.1469+163A>G	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290694	NM_001080413.3(NOBOX):c.292+66A>G	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290495	NC_000007.14:g.144397037C>T	NOBOX	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1283697	NC_000007.14:g.144397163A>C	NOBOX	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1276072	NM_001080413.3(NOBOX):c.210+147C>T	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274407	NM_001080413.3(NOBOX):c.210+140A>G	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264476	NM_001080413.3(NOBOX):c.292+40C>T	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260367	NM_001080413.3(NOBOX):c.85+264G>A	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257081	NM_001080413.3(NOBOX):c.1240+34G>A	NOBOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1256031	NM_001080413.3(NOBOX):c.1674_1677del (p.Phe559fs)	NOBOX (F559fs)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256030	NM_001080413.3(NOBOX):c.1199C>T (p.Pro400Leu)	NOBOX (P400L)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256025	NM_001080413.3(NOBOX):c.1131del (p.Gly378fs)	NOBOX (G378fs)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256013	NM_001080413.3(NOBOX):c.1298G>T (p.Gly433Val)	NOBOX (G433V)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1255994	NM_001080413.3(NOBOX):c.2041dup (p.Ala681fs)	NOBOX (A681fs)	Duplication (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1248530	NM_001080413.3(NOBOX):c.1775-149T>C	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238493	NC_000007.14:g.144410509T>C	NOBOX	Single nucleotide variant	not provided	GBenign
Select item 1226872	NM_001080413.3(NOBOX):c.1470-51G>A	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222892	NM_001080413.3(NOBOX):c.1155-23G>A	NOBOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222264	NC_000007.14:g.144410460G>A	NOBOX	Single nucleotide variant	not provided	GBenign

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